Children with rare genetic disease find comfort in this first-ever meeting

These moms and dads have spent years going back and forth with each other over email and messages, trying to find a treatment for their kids with the rare neurological disorder called KIF1A. All their tireless work has led to this moment.
Humankind, USA TODAY

NEW YORK -- The sounds of kids' laughter echo through the halls of Columbia University Irving Medical Center. "I'll get you! I'll get you!" Avantika Fraser teases her five-year old son, Rohan, as he shuffles away in his pint-sized blue walker and matching sneakers. Not far behind is Parker, another little boy with the same walker and shuffle.

Both Rohan and Parker live with KIF1A-associated rare disease, and their walkers and leg braces are essential to them getting around.

Kids with KIF1A gather in New York(Photo: Kathryn Atchley)

Last week, the largest meeting of parents, children, and leaders in KIF1A-associated rare disease conference took place in New York's Columbia University Irving Medical Center.

"I knew this gathering was going to be special, but I was not prepared for how life-changing it was," says Kathryn Atchley, mother of six-year-old Parker.

Watch the video above to see Rohan and Parker race through the hallways of Columbia.

KIF1A affects less than 200 people worldwide with symptoms appearing at birth or early childhood. From epilepsy, neuropathy or problems of the nerve cells, intellectual disability, developmental delay, and optic nerve atrophy, each child with KIF1A-associated disease can present with different signs and symptoms. It is a progressive and sometimes lethal disease with no cure or treatment.

For Rohan's parents, getting this diagnosis for Rohan was numbing and shocking. "When Rohan still wasn't walking and struggling to stand by 18 months, we knew something wasn't right," remembers Avantika. "Unfortunately, nothing could have prepared us for what we'd eventually learn in the next year about his diagnosis."

Avantika holds son, Rohan, who is living with KIF1A disease.(Photo: Avantika Fraser)

After several long months, Rohan's parents finally received the diagnosis that Rohan had the rare, neurological and degenerative genetic condition KIF1A. "The months that followed were incredibly tough."

Having a child with a diagnosis of something so rare was isolating for Avantika and her husband. They eventually found KIF1A.org and a Family Support Group on Facebook. They started connecting with other families who were experiencing the same struggles. "It was comforting to hear about other kids and not feel so alone," says Avantika. "We've found hope and strength from the people in this group because we all want so desperately to find a treatment for our kids."

The challenge to find a cure is exponentially more difficult because of the many different variations that can occur. "It's not clear to us yet exactly what's going to work and if we have to come up with 82 cures rather than one cure, it's going to be 82 times harder," says Dr. Wendy Chung, one of the leading molecular geneticists in the search for a KIF1A cure.

The culmination of families, researchers clinicians, and supporters from all over the world was another step in the search for a cure for KIF1A. "Treatment is within our reach, it is not science fiction, it is not a pipe dream," says Parker's mom, Kathryn. "As long as we continue to power this research and unite our community, I have no doubt we will save children’s lives and create a brighter future for KIF1A families."

"To see Rohan and Parker racing around the halls in their walkers was unlike anything we've experienced," says Avantika. "There might not be a lot of people in our day-to-day life that are like Rohan, but meeting so many of them truly made us all feel like a new family."